Publicacions
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Beatriz Mínguez Rodríguez, Molera C, Martorell-Sampol L, Romero RG, Rivero GC and Martín-de-Carpi J.
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort
GASTROENTEROLOGIA Y HEPATOLOGIA . 45(8): 585-592.
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Pata S, Flores-Rojas K, Gil A, López-Laso E, Marti-Sanchez L, Baide-Mairena H, Pérez-Dueñas B and Gil-Campos M.
Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.
ORPHANET JOURNAL OF RARE DISEASES . 17(1): 340-340. Nº de cites: 1
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Rubies C, Batlle M, Sanz-de la Garza M, Dantas AP, Jorba I, Fernandez-Isern G, Sangüesa G, Abuli M, Brugada J, Sitges M, Navajas D, Mont L and Guasch E.
Long-Term Strenuous Exercise Promotes Vascular Injury by Selectively Damaging the Tunica Media Experimental Evidence
JACC-BASIC TO TRANSLATIONAL SCIENCE . 7(7): 681-693. Nº de cites: 6
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Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell-Sampol L, Català-Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG and Kohl S.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA . 119(27): 211553811. Nº de cites: 1
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Casas-Alba D, Hoenicka J, Vilanova-Adell A, Vega-Hana L, Pijuan-Marquilles J and Palau F.
Diagnostic strategies in patients with undiagnosed and rare diseases
Journal of Translational Genetics and Genomics . 6(3): 322-332. Nº de cites: 2
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Castroflorio E, Pérez Berná AJ, López-Marquez A, Badosa-Gallego MC, Loza-Alvarez P, Roldan-Molina M and Jimenez-Mallebrera C.
The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(14): 1-15. Nº de cites: 3
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Fernandez-Isern G, Yubero-Siles D, Palau F and Armstrong-Moron J.
Molecular Modelling Hurdle in the Next-Generation Sequencing Era
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(13): .
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Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Porto FBO, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Cumhur Sener E, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B and Kohl S.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
HUMAN MUTATION . 43(7): 832-858. Nº de cites: 9
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Cuadrado-Vilanova M, Liu J, Paco-Mercader S, Aschero MR, Burgeño-Sandoval V, Sirab N, Pascual-Pastó G, Correa G, Balaguer-Lluna L, Castillo H, Pérez-Jaume S, Muñoz-Aznar O, Roldan-Molina M, Suñol M, Schaiquevich P, Aerts I, Doz F, Cassoux N, Lubieniecki F, Benitez-Ribas D, Lavarino C, Mora J, Chantada G, Català-Mora J, Radvanyi F and Carcaboso AM.
Identification of immunosuppressive factors in retinoblastoma cell secretomes and aqueous humor from patients
JOURNAL OF PATHOLOGY . 257(3): 327-339. Nº de cites: 4
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Muñoz-Lasso DC, Mollá B, Sáenz-Gamboa JJ, Insuasty E, de la Iglesia-Vaya M, Pook MA, Pallardó FV, Palau F and Gonzalez-Cabo P.
Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich's Ataxia YG8sR Model: A Multilinear Algebra Approach.
FRONTIERS IN MOLECULAR NEUROSCIENCE . 15: 912780-912780. Nº de cites: 1